Family determined to fight for 2 children with rare genetic disorder

Sunday, December 2, 2012

Instead, the Upper Providence woman has spent the past eight weeks finding ways to fight back against Metachromatic Leukodystrophy, or MLD, and change the odds in her children’s favor. If she has it her way, she will save her children, change the world and put and end to the disease at the same time.

The disease, according to the MLD Foundation, causes a degeneration in the white matter of the brain and the central nervous system, resulting in a degradation of a person’s ability to function, as well as the onset, in some cases, of paralysis, blindness, seizures and eventually death.

The determination of Vivian and her husband, Steve, to fight this out before their children slip away, is the only shot Eli and Ella have at survival, and she knows it.

Eli went for semi-annual checkups, but nothing unusual was ever detected.

When Eli started school, Vivian noticed he had a slight tremor in his hands.

“When he would go to draw with a pencil, or when he was holding something or try to use his fine motor skills,” a tremor was noticeable, she said. She thought it might be mild cerebral palsy.

Eli saw the doctor and Vivian requested a neurologist. Eli was seen at the Children’s Hospital of Philadelphia, and Vivian asked for an MRI. The professionals said “there was a mild problem, maybe he was a little developmentally delayed,” but they saw no reason for an MRI, and didn’t order one.

Vivian said someone at CHOP told her “everybody shakes.” Unhappy with that reaction, Vivian sought a second opinion.

She got Eli an appointment at Alfred I. duPont Hospital for Children in Wilmington. Although the professionals at duPont didn’t find any reason to do an MRI, either, Vivian convinced them she felt something was wrong. An MRI was done, and “the rest,” Vivian said, “is history.”

Not one diagnosis, but two The day Eli was diagnosed, which Vivian chronicled in her blog, was just the first blow in a series her family has suffered. It is, however, forever etched in her memory.

“I knew something was wrong when they came out and said they needed to keep (Eli) under a little longer to do contrast,” she said, referring to the day in late-September when the MRI was done.

When it was complete, the neurologist delivered the news.

‘We’re pretty confident your son has this disease. It’s a fatal disease, some kids live a year.’

Vivian said she didn’t immediately cry or even get sad.

“I had to be determined and figure out everything I could about this disease,” she said.

She immediately started researching MLD and treatment options. She also made arrangements to have her other children tested for the disease.

Vivian said she was “scared to death,” after Eli’s diagnosis. Two words stood out to her.

“I knew ‘dystrophy’ was bad, and ‘genetic,’ I knew that meant my other kids could have it.”

While doing research, Vivian found the only treatment available in the United States is a transplant of stem cells via bone marrow or umbilical cord blood. Neither was an option for Eli.

“Bone marrow has a very high mortality rate, like 40 percent,” Vivian said, noting even successful transplants don’t always produce ideal results. “That’s not an option for us.”

However, a clinical trial using gene therapy being done in Milan, Italy, is an option — and the only option — at that.

Vivian reached out to the doctors conducting the trial, and was told Eli was not accepted. Soon after getting that devastating news, the test results on the other three children were in.

The older two were carriers of the disease, but they didn’t have it. Four-year-old Ella did.

Devastated but more determined than ever to fight for two of her babies, Vivian returned to her computer and reached out to the doctors in Milan a second time. The clinical trial “is the only shot we have,” she begged.

Ella and Eli have yet to show any major symptoms of the disease and life at the Vivian household remains “normal,” Vivian is afraid of how things will change, and knows there is no time to waste.

The doctors are reconsidering, but Vivian still doesn’t know if Eli or Ella will be accepted. Every day she prays, but she doesn’t pray alone.

Eli and Ella’s Prayer WarriorsAs determined as she and her husband are to save their kids, they know they can’t do it alone.

Vivian concedes she’s not someone “who posts my whole life on Facebook,” but the social network was a perfect place to share her story.

“I believe in God, I believe in the power of prayer,” she said. She began recruiting “prayer warriors.”

“It’s amazing,” she said of the feedback and support, which sustain her in difficult times.

“It’s so overwhelming,” she said. “There’s no words to describe how my heart feels.”

That said, Vivian won’t be content until her children are well and others know about MLD.

“I will not stop,” she said. “I want to go as big as I can for people to know about genetic diseases, for people to know about my kids. I swore, when this happened, I will change the world with my kids.

“I want to go big. I want the word to get out there to one person who’s going to make a difference to our family,” Vivian said. “I believe I was given this (task) for a reason. This is on my plate for a reason.

Since becoming familiar with MLD, Vivian has learned a lot about the disease.

“One in 40,000” people are carriers of the disease, she said, and the chance two carriers will start a family together is 1 in 100,000. If they do conceive, the odds the child will have MLD is 1 in 4.

Before Eli and Ella were diagnosed, Vivian hadn’t heard of MLD. She didn’t know she was a carrier or that her future children could have the disease.

She wishes she knew the risks before having children. Though it’s impossible to imagine her life without her children, Vivian might have made different choices about conceiving. She explained she might have considered adoption. At the least, she would have known the risk and not been blind-sided.

“Before you get pregnant, before you even think about it, you can save so many lives,” if you get tested for MLD, she said. Regardless of the decision each couple makes, at least they will know what they might be facing, she added. “You can make whatever decision you want, just know what’s in front of you.”

A community reaches outJessica Reigner didn’t know the Vivians when she heard their story. To date, she hasn’t met them.

But she knows what has happened to them could happen to anyone, “but for the grace of God.”

“Looking at Becky Vivian, you might as well be looking in the mirror,” Reigner added.

Moved to help, Reigner brainstormed a fund-raising event.

“Everybody loves Candyland,” she said, referencing the board game. She had connections to the owner of the Philadelphia Expo Center in Oaks and started making plans for the fundraiser, hoping to alleviate the stress of funding the trip to Milan if Eli and Ella are accepted into the clinical trial.

About six weeks after coming up with the idea, The Wonderland of Wishes will bring some of the magic of Candyland to life inside the 75,000-square-foot expo center on Dec. 2. Admission is free, with a charge for various activities inside, including pony rides, a rock climbing wall, a bungee jump, and many other activities. Food will also be available for purchase.

Reigner and the dozens of other volunteers are hoping for a big turnout.

“Word is spreading” online and “I have heard from people in Connecticut, New Jersey, Delaware,” etc., who plan to attend, she said.

“It’s a blessing to us to be part of seeing so much good in all these people,” she said. “The community has truly come together like nothing I’ve ever seen before.”

Becky Vivian said the fundraiser is a wonderful idea, and it means the world to know so many people care. However, the money isn’t as important as the awareness.

She acknowledged that her brother, Rick Lewis, is the president and CEO of Lewis Environmental. When Eli and Ella were diagnosed, “he told me I didn’t have to work anymore, he told me ‘you’re done, take a year off,’” and do what needs to be done to take care of the kids. Bills still need to be paid, but, Vivian said, she knows she is very fortunate to have the support she has.

“The fundraisers are great, but my goal is to find a cure and to prevent” MLD, she said. “I want people to know about this disease and prevention.”